Varaico: Literature-Extracted Genetic Variants

TERT

3,344 papers

RefSeq Summary

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, enc...

Pfam Domains

Telomerase_RBDaa 460–592UCSCTelomerase ribonucleoprotein complex - RNA binding domain

TERT_Caa 968–1097UCSCTelomerase reverse transcriptase, C-terminal extension

Gene Aliases

HGNC Name

telomerase reverse transcriptase

HGNC Alias Symbols

TRT; TP2; TCS1; hEST2; EST2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_198253.3

p.P44L

c.131C>T

Surrounding Variants

1 paper

NM_198253.3

p.P44insFs

c.131_132insAA

1 paper

NM_198253.3

p.Q40_P44del0

c.119_130del12

1 paper

NM_198253.3

p.P44P

c.132G>T

1 paper

NM_198253.3

p.P44P

c.132G>C

2 papers

NM_198253.3

p.P44S

c.130C>T

1 paper

NM_198253.3

p.A45S

c.133G>T

1 paper

NM_198253.3

p.A45T

c.133G>A

3 papers

NM_198253.3

p.A45V

c.134C>T

4 papers

NM_198253.3

p.A45G

c.134C>G

1 paper

NM_198253.3

p.G42_P44ins1

c.126_131dup6

4 papers

NM_198253.3

p.A45E

c.134C>A

2 papers

NM_198253.3

p.D43A

c.128A>C